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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-44944827-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44944827&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44944827,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000592954.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC4",
"gene_hgnc_id": 611,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "NM_001646.3",
"protein_id": "NP_001637.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 127,
"cds_start": 155,
"cds_end": null,
"cds_length": 384,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 616,
"mane_select": "ENST00000592954.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC4",
"gene_hgnc_id": 611,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "ENST00000592954.2",
"protein_id": "ENSP00000468236.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 127,
"cds_start": 155,
"cds_end": null,
"cds_length": 384,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 616,
"mane_select": "NM_001646.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC4-APOC2",
"gene_hgnc_id": 44426,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "ENST00000589057.5",
"protein_id": "ENSP00000468139.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 178,
"cds_start": 155,
"cds_end": null,
"cds_length": 537,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC4",
"gene_hgnc_id": 611,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp",
"transcript": "ENST00000591600.1",
"protein_id": "ENSP00000466444.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 73,
"cds_start": 155,
"cds_end": null,
"cds_length": 222,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC4-APOC2",
"gene_hgnc_id": 44426,
"hgvs_c": "n.155G>A",
"hgvs_p": null,
"transcript": "ENST00000585685.5",
"protein_id": "ENSP00000467185.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC4-APOC2",
"gene_hgnc_id": 44426,
"hgvs_c": "n.195G>A",
"hgvs_p": null,
"transcript": "NR_037932.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOC4",
"gene_hgnc_id": 611,
"dbsnp": "rs12691089",
"frequency_reference_population": 0.0048598,
"hom_count_reference_population": 59,
"allele_count_reference_population": 7819,
"gnomad_exomes_af": 0.00471633,
"gnomad_genomes_af": 0.00623219,
"gnomad_exomes_ac": 6870,
"gnomad_genomes_ac": 949,
"gnomad_exomes_homalt": 53,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0033434033393859863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.1206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.419,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000592954.2",
"gene_symbol": "APOC4",
"hgnc_id": 611,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000589057.5",
"gene_symbol": "APOC4-APOC2",
"hgnc_id": 44426,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Gly52Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}